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Hawaii woman is first patient to receive at-home treatment for spinal muscular atrophy

By Cynthia Yip

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    HONOLULU (KITV) — Oahu student and artist Janelle Fiesta, 26, has been living with spinal muscular atrophy (SMA), a rare, progressive neuromuscular disease, her entire life. She is the first person in Hawaii to start on an at-home treatment for her disease.

SMA is the leading genetic culprit of infant mortality, and causes difficulty with critical life functions such as breathing, swallowing and walking.

Given the progressive nature of her disease, Janelle was eager to start on treatment when she heard that the first and only-at home treatment (Evrysdi) for adults and children 2 months of age and older had been approved.

Having an at-home treatment options remain critical given the pandemic: a time when decisions to leave home have remained painstaking for more vulnerable populations such as those with SMA.

Spinal Muscular Atrophy is a severe neuromuscular disease that can be fatal. It affects about one in 10,000 babies and is the leading genetic cause of infant death.

But Fiesta aspires to be a beacon of hope to others living with disabilities. She is an anime and pop culture artist, drawing and posting regularly to her Instagram, @Cutelootarts.

“My motivation is that I want to be a light in the light of others. I want to be able to serve. “ And Janelle Fiesta has been motivating others like herself with disabilities.

“Janelle is an amazing example of how she inspires individuals with disabilities that they can persevere and do whatever they want as long as they put their mind to it, ”says Grace Kruse, Abilities Unlimited, YMCA. “It’s super awesome to see her work with the interns. “

Janelle started the first and only-at home treatment about a year ago. Instead of having to go to the hospital every 4 months for a painful transfusion of medicine, she takes the oral medication once a day at home.

“My atrophy muscles isn’t as bad as it used to be in no case does it reverse my condition but it halts the progression of my SMA… I feel like it gives me another chance to keep doing what I’m doing. “The reason I decided to take Evrysd is because I couldn’t imagine losing the muscle function to draw. Thinking of such a future was devastating to me. Drawing is my first passion.

Her passion is her art — which is also a growing business.

“My hope is that I can eventually grow my business into something bigger that can inspire others but also being able to share my art.”

Janelle is also an advocate for screening of SMA in Hawaii. Hawaii remains one of only a handful of states that has not yet implemented newborn screening. If a baby is screened for the disease at birth, its progression can be stopped.

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